TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein
about
FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathiesOCRL localizes to the primary cilium: a new role for cilia in Lowe syndromeWhole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophyZebrafish: a vertebrate tool for studying basal body biogenesis, structure, and functionRetinal dystrophies, genomic applications in diagnosis and prospects for therapyThe role of primary cilia in the development and disease of the retinaIsolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in UbiquitinationDynamic compression of chondrocyte-agarose constructs reveals new candidate mechanosensitive genesThe centrosomal protein pericentrin identified at the basal body complex of the connecting cilium in mouse photoreceptorsBiallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophyInhibition of PDGF-B induction and cell growth by syndecan-1 involves the ubiquitin and SUMO-1 ligase, ToporsFunctional analysis of retinitis pigmentosa 2 (RP2) protein reveals variable pathogenic potential of disease-associated missense variantsWhole exome sequencing identifies CRB1 defect in an unusual maculopathy phenotypeGenes and mutations causing retinitis pigmentosa.CERKL knockdown causes retinal degeneration in zebrafish.Nuclear structure and chromosome segregation in Drosophila male meiosis depend on the ubiquitin ligase dTopors.Interactome analysis reveals that FAM161A, deficient in recessive retinitis pigmentosa, is a component of the Golgi-centrosomal network.SUMOylation regulates ciliary localization of olfactory signaling proteins.TOPORS, a Dual E3 Ubiquitin and Sumo1 Ligase, Interacts with 26 S Protease Regulatory Subunit 4, Encoded by the PSMC1 Gene.SUMOylation of the small GTPase ARL-13 promotes ciliary targeting of sensory receptors.Non-syndromic retinal ciliopathies: translating gene discovery into therapy.Photoreceptor Cilia and Retinal Ciliopathies.A novel mutation in the dominantly inherited TOPORS gene supports haploinsufficiency as the mechanism of retinitis pigmentosa.Evidence of a role of inositol polyphosphate 5-phosphatase INPP5E in cilia formation in zebrafishFurther Insights into the Ciliary Gene and Protein KIZ and Its Murine Ortholog PLK1S1 Mutated in Rod-Cone Dystrophy.Migration-selection balance drives genetic differentiation in genes associated with high-altitude function in the speckled teal (Anas flavirostris) in the Andes.Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario.
P2860
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P2860
TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein
description
2011 nî lūn-bûn
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2011 թուականի Մարտին հրատարակուած գիտական յօդուած
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2011 թվականի մարտին հրատարակված գիտական հոդված
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2011年の論文
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2011年論文
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2011年論文
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2011年論文
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2011年論文
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2011年論文
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2011年论文
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TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein
@ast
TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein
@en
TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein
@en-gb
TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein
@nl
type
label
TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein
@ast
TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein
@en
TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein
@en-gb
TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein
@nl
prefLabel
TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein
@ast
TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein
@en
TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein
@en-gb
TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein
@nl
P2093
P2860
P50
P3181
P356
P1476
TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein
@en
P2093
Amna Z Shah
Carlos A Murga-Zamalloa
Christina F Chakarova
Irma Lopez
Kerstin Nagel-Wolfrum
Myrto G Papaioannou
Peter Munro
Robert K Koenekoop
Rosa M Rios
Shomi S Bhattacharya
P2860
P304
P3181
P356
10.1093/HMG/DDQ543
P407
P577
2011-03-01T00:00:00Z